Copy number variation of two separate regulatory regions upstream ofSOX9causes isolated 46,XY or 46,XX disorder of sex development-Reference-Cited by-同舟云学术

Copy number variation of two separate regulatory regions upstream ofSOX9causes isolated 46,XY or 46,XX disorder of sex development

Published:2015-01-20 Issue:4 Volume:52 Page:240-247
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Kim Gwang-Jin,Sock Elisabeth,Buchberger Astrid,Just Walter,Denzer Friederike,Hoepffner Wolfgang,German James,Cole Trevor,Mann Jillian,Seguin John H,Zipf William,Costigan Colm,Schmiady Hardi,Rostásy Moritz,Kramer Mildred,Kaltenbach Simon,Rösler Bernd,Georg Ina,Troppmann Elke,Teichmann Anne-Christin,Salfelder Anika,Widholz Sebastian A,Wieacker Peter,Hiort Olaf,Camerino Giovanna,Radi Orietta,Wegner Michael,Arnold Hans-Henning,Scherer Gerd

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference44 articles.

1. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene;Foster;Nature,1994

2. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9;Wagner;Cell,1994

3. Homozygous inactivation of Sox9 causes complete XY sex reversal in mice;Barrionuevo;Biol Reprod,2006

4. Autosomal XX sex reversal caused by duplication of SOX9;Huang;Am J Med Genet,1999

5. Sox9 induces testis development in XX transgenic mice;Vidal;Nat Genet,2001

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